Ruvalcaba syndrome

Classification according to ICD-10
Q87.8	Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Ruvalcaba syndrome is a very rare congenital malformation syndrome with the main features of mental retardation , developmental delay , skeletal abnormalities, facial dysmorphia and genital malformations.

Synonyms are: Hunter-Mcalpine syndrome; English Osseous dysplasia with mental retardation, Ruvalcaba type

The name refers to the first author of the first description from 1971 by the American paediatricians RHA Ruvalcaba and employees.

A report from AG Hunter, PJ McAlpine et al was from 1977.

The syndrome is not to be confused with Ruvalcaba-Myhre-Smith syndrome or Hunter-McAlpine craniosynostosis .

distribution

The frequency is not known; an autosomal dominant or X-linked semi-dominant inheritance is being discussed as the male gender is more frequently affected.

Clinical manifestations

Clinical criteria are:

prenatal short stature
Brachymetacarpy especially in III.-V. beam
Brachyphalangia , syndactyly , clinodactyly , hypoplasia of the terminal phalanges
Microcephaly , Dandy Walker malformation
Facial dysmorphism with hypoplastic nostrils, narrow lips, antimongoloid lid axis , hypoplasia of the upper jaw , small mouth
Spondylar dysplasia, kyphoscoliosis , chest of the keel , Scheuermann's disease
Hypogenitalism in the male sex
mental disability
Skin changes
Craniosynostosis

Differential diagnosis

Demarcate are the Hunter-McAlpine-craniosynostosis and Tricho-rhino-phalangeal dysplasia type 3

literature

M. Adachi, K. Muroya, Y. Asakura, K. Kurosawa, G. Nishimura, S. Narumi, T. Hasegawa: Ruvalcaba syndrome revisited. In: American journal of medical genetics. Part A. Vol. 152A, No. 7, July 2010, pp. 1854-1857, doi: 10.1002 / ajmg.a.33429 , PMID 20583188 .
MG Bialer, WG Wilson, TE Kelly: Apparent Ruvalcaba syndrome with genitourinary abnormalities. In: American journal of medical genetics. Vol. 33, No. 3, July 1989, pp. 314-317, doi: 10.1002 / ajmg.1320330306 , PMID 2679089 (review).
A. Hunter: Ruvalcaba syndrome. In: American journal of medical genetics. Vol. 21, No. 4, August 1985, pp. 785-787, doi: 10.1002 / ajmg.1320210423 , PMID 4025405 .

Individual evidence

↑ ^a ^b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ ^a ^b ^c ^d Ruvalcaba syndrome. In: Orphanet (Rare Disease Database).
^ RH Ruvalcaba, A. Reichert, DW Smith: A new familial syndrome with osseous dysplasia and mental dificiency. In: The Journal of pediatrics. Vol. 79, No. 3, September 1971, pp. 450-455, PMID 5567967 .
^ AG Hunter, PJ McAlpine, NL Rudd, FC Fraser: A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy. In: Journal of medical genetics. Vol. 14, No. 6, December 1977, pp. 430-437, PMID 342696 , PMC 1013640 (free full text).

Web links

Ruvalcaba syndrome. In: Online Mendelian Inheritance in Man . (English)
Rare Diseases

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[Orpha-2] Ruvalcaba syndrome. In: Orphanet (Rare Disease Database).

[3] RH Ruvalcaba, A. Reichert, DW Smith: A new familial syndrome with osseous dysplasia and mental dificiency. In: The Journal of pediatrics. Vol. 79, No. 3, September 1971, pp. 450-455, PMID 5567967 .

[4] AG Hunter, PJ McAlpine, NL Rudd, FC Fraser: A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy. In: Journal of medical genetics. Vol. 14, No. 6, December 1977, pp. 430-437, PMID 342696 , PMC 1013640 (free full text).